Varaico: Literature-Extracted Genetic Variants

ABCC6

800 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

TMD0_ABCaa 6–166UCSCABC transporter TMD0 domain

ABC_membraneaa 311–581UCSCABC transporter transmembrane region

ABC_tranaa 646–781UCSCABC transporter

ABC_membraneaa 947–1216UCSCABC transporter transmembrane region

ABC_tranaa 1282–1430UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 6

HGNC Previous Symbols

ARA; PXE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

40 papers

NM_001171.6

p.R1339C

c.4015C>T

Surrounding Variants

2 papers

NM_001171.6

p.R1339S

c.4015C>A

4 papers

NM_001171.6

p.R1339L

c.4016G>T

10 papers

NM_001171.6

p.R1339H

c.4016G>A

1 paper

NM_001171.6

p.T1337I

c.4010C>T

1 paper

NM_001171.6

p.T1337A

c.4009A>G

1 paper

NM_001171.6

p.H1336N

c.4006C>A

2 papers

NM_001171.6

p.I1342T

c.4025T>C

8 papers

NM_001171.6

p.L1335P

c.4004T>C

3 papers

NM_001171.6

p.L1335Q

c.4004T>A

1 paper

NM_001171.6

p.G1334G

c.4002G>A

1 paper

NM_001171.6

p.I1344S

c.4031T>G

2 papers

NM_001171.6

p.V1333V

c.3999G>A